Comparison of Longitudinal Changes of Cerebral Small Vessel Disease Markers and Cognitive Function Between Subcortical Vascular Mild Cognitive Impairment With and Without NOTCH3 Variant: A 5-Year Follow-Up Study
No study yet has compared the longitudinal course and prognosis between subcortical vascular cognitive impairment patients with and without genetic component. In this study, we compared the longitudinal changes in cerebral small vessel disease markers and cognitive function between subcortical vascu...
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Frontiers Media S.A.
2021-02-01
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| Series: | Frontiers in Neurology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fneur.2021.586366/full |
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| author | Cindy W. Yoon Young-Eun Kim Hee Jin Kim Chang-Seok Ki Hyejoo Lee Joung-Ho Rha Duk L. Na Sang Won Seo |
| author_facet | Cindy W. Yoon Young-Eun Kim Hee Jin Kim Chang-Seok Ki Hyejoo Lee Joung-Ho Rha Duk L. Na Sang Won Seo |
| author_sort | Cindy W. Yoon |
| collection | DOAJ |
| description | No study yet has compared the longitudinal course and prognosis between subcortical vascular cognitive impairment patients with and without genetic component. In this study, we compared the longitudinal changes in cerebral small vessel disease markers and cognitive function between subcortical vascular mild cognitive impairment (svMCI) patients with and without NOTCH3 variant [NOTCH3(+) svMCI vs. NOTCH3(–) svMCI]. We prospectively recruited patients with svMCI and screened for NOTCH3 variants by sequence analysis for mutational hotspots in the NOTCH3 gene. Patients were annually followed-up for 5 years through clinical interviews, neuropsychological tests, and brain magnetic resonance imaging. Among 63 svMCI patients, 9 (14.3%) had either known mutations or possible pathogenic variants. The linear mixed effect models showed that the NOTCH3(+) svMCI group had much greater increases in the lacune and cerebral microbleed counts than the NOTCH3(–) svMCI group. However, there were no significant differences between the two groups regarding dementia conversion rate and neuropsychological score changes over 5 years. |
| first_indexed | 2024-12-16T14:35:09Z |
| format | Article |
| id | doaj.art-6643b65737f14033a7422f797715a28e |
| institution | Directory Open Access Journal |
| issn | 1664-2295 |
| language | English |
| last_indexed | 2024-12-16T14:35:09Z |
| publishDate | 2021-02-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Neurology |
| spelling | doaj.art-6643b65737f14033a7422f797715a28e2022-12-21T22:28:07ZengFrontiers Media S.A.Frontiers in Neurology1664-22952021-02-011210.3389/fneur.2021.586366586366Comparison of Longitudinal Changes of Cerebral Small Vessel Disease Markers and Cognitive Function Between Subcortical Vascular Mild Cognitive Impairment With and Without NOTCH3 Variant: A 5-Year Follow-Up StudyCindy W. Yoon0Young-Eun Kim1Hee Jin Kim2Chang-Seok Ki3Hyejoo Lee4Joung-Ho Rha5Duk L. Na6Sang Won Seo7Department of Neurology, Inha University School of Medicine, Incheon, South KoreaDepartment of Laboratory Medicine, Hanyang University College of Medicine, Seoul, South KoreaDepartment of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South KoreaGenome Research Center, Green Cross Genome, Yong-in, South KoreaDepartment of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South KoreaDepartment of Neurology, Inha University School of Medicine, Incheon, South KoreaDepartment of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South KoreaDepartment of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South KoreaNo study yet has compared the longitudinal course and prognosis between subcortical vascular cognitive impairment patients with and without genetic component. In this study, we compared the longitudinal changes in cerebral small vessel disease markers and cognitive function between subcortical vascular mild cognitive impairment (svMCI) patients with and without NOTCH3 variant [NOTCH3(+) svMCI vs. NOTCH3(–) svMCI]. We prospectively recruited patients with svMCI and screened for NOTCH3 variants by sequence analysis for mutational hotspots in the NOTCH3 gene. Patients were annually followed-up for 5 years through clinical interviews, neuropsychological tests, and brain magnetic resonance imaging. Among 63 svMCI patients, 9 (14.3%) had either known mutations or possible pathogenic variants. The linear mixed effect models showed that the NOTCH3(+) svMCI group had much greater increases in the lacune and cerebral microbleed counts than the NOTCH3(–) svMCI group. However, there were no significant differences between the two groups regarding dementia conversion rate and neuropsychological score changes over 5 years.https://www.frontiersin.org/articles/10.3389/fneur.2021.586366/fullNOTCH3CADASILlacunecerebral microbleedsubcortical vascular cognitive impairment |
| spellingShingle | Cindy W. Yoon Young-Eun Kim Hee Jin Kim Chang-Seok Ki Hyejoo Lee Joung-Ho Rha Duk L. Na Sang Won Seo Comparison of Longitudinal Changes of Cerebral Small Vessel Disease Markers and Cognitive Function Between Subcortical Vascular Mild Cognitive Impairment With and Without NOTCH3 Variant: A 5-Year Follow-Up Study Frontiers in Neurology NOTCH3 CADASIL lacune cerebral microbleed subcortical vascular cognitive impairment |
| title | Comparison of Longitudinal Changes of Cerebral Small Vessel Disease Markers and Cognitive Function Between Subcortical Vascular Mild Cognitive Impairment With and Without NOTCH3 Variant: A 5-Year Follow-Up Study |
| title_full | Comparison of Longitudinal Changes of Cerebral Small Vessel Disease Markers and Cognitive Function Between Subcortical Vascular Mild Cognitive Impairment With and Without NOTCH3 Variant: A 5-Year Follow-Up Study |
| title_fullStr | Comparison of Longitudinal Changes of Cerebral Small Vessel Disease Markers and Cognitive Function Between Subcortical Vascular Mild Cognitive Impairment With and Without NOTCH3 Variant: A 5-Year Follow-Up Study |
| title_full_unstemmed | Comparison of Longitudinal Changes of Cerebral Small Vessel Disease Markers and Cognitive Function Between Subcortical Vascular Mild Cognitive Impairment With and Without NOTCH3 Variant: A 5-Year Follow-Up Study |
| title_short | Comparison of Longitudinal Changes of Cerebral Small Vessel Disease Markers and Cognitive Function Between Subcortical Vascular Mild Cognitive Impairment With and Without NOTCH3 Variant: A 5-Year Follow-Up Study |
| title_sort | comparison of longitudinal changes of cerebral small vessel disease markers and cognitive function between subcortical vascular mild cognitive impairment with and without notch3 variant a 5 year follow up study |
| topic | NOTCH3 CADASIL lacune cerebral microbleed subcortical vascular cognitive impairment |
| url | https://www.frontiersin.org/articles/10.3389/fneur.2021.586366/full |
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